Objectives: To examine the prevalence and nature of
craniofacial abnormalities in patients with Marfan’s syndrome and to
investigate the relationship between craniofacial abnormalities and
obstructive sleep apnea (OSA) severity in these patients.
Marfan’s syndrome clinic in a tertiary teaching hospital.
Patients: Fifteen consecutive adult patients (7 men and 8
women; mean [± SD] age, 34.8 ± 13.2 years) who had Marfan’s
Measurements and results: Apneic status was
determined from standard overnight polysomnography testing.
Measurements from standardized lateral cephalometric radiographs were
compared to normative data. Thirteen patients had OSA, which was
defined as an apnea/hypopnea index (AHI) of > 5 episodes per hour
(mean AHI, 22 ± 15 episodes per hour). A high prevalence of
craniofacial abnormalities was found with significant gender
differences for some of the variables. Significant abnormalities for
the entire group were bimaxillary retrusion, a reduced maxillary
length, an increased total anterior face height, a long lower anterior
face height, an obtuse gonial angle, a steep mandibular plane, a
reduced posterior nasal airway height, a reduced posterior airway
space, and an increased distance from the mandibular plane to the hyoid
bone. Univariate analysis revealed significant correlations among the
total anterior face height, the upper anterior and posterior face
heights, the mandibular length, and AHI. There was a significant
correlation between the rank of the number of cephalometric
abnormalities per patient and AHI in those patients with OSA.
Conclusions: Craniofacial abnormalities are common in
patients with Marfan’s syndrome. The relationship between some
cephalometric parameters and apnea severity suggests a potential role
of craniofacial structure in the pathogenesis of OSA in these